Canonical Allele Identifier: PA2580420717
Gene: ELAC2 HGNC NCBI
ClinVar RCV:
RCV002805571
ClinVar Variation:
1986658
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060597.4:p.Leu794Phe
CA398222198
NM_018127.7:c.2380C>T